Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea

Genitopatellar syndrome (GPS) is a rare disorder characterized by patellar hypoplasia, flexion contractures of the lower limbs, psychomotor retardation and genital and renal anomalies. We report the case of a female infant diagnosed with GPS to a KAT6B gene mutation, which was identified using whole...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Yonsei Med J
Autori principali: Kim, Byuh Ree, Han, Jeong Ho, Shin, Jeong Eun, Park, Min Soo, Park, Kook In, Namgung, Ran, Lee, Hyun-Joo, Lee, Jin-Sung, Eun, Ho Sun
Natura: Artigo
Lingua:Inglês
Pubblicazione: Yonsei University College of Medicine 2019
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6433568/
https://ncbi.nlm.nih.gov/pubmed/30900427
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3349/ymj.2019.60.4.395
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi